EFN

Prader-Willi Syndrome (PWS) is a rare genetic disorder that causes the sensation of never being full. The area of the brain that holds feelings of fullness or hunger does not function normally in people with PWS.
Prader-Willi syndrome affects an approximated 1 in 10,000 to 25,000 people.

Prader-Willi syndrome is caused by a gene missing on part of chromosome 15. Generally, your parents each pass down a copy of this chromosome. A large number of patients with Prader-Willi syndrome are missing the genetic material on part of the father’s chromosome. The remaining patients often have two copies of the mother’s chromosome 15.

The symptoms of Prader-Willi syndrome are caused by dysfunction of a portion of the brain called the hypothalamus. The hypothalamus is a small endocrine organ at the base of the brain that runs a important role in a large number of bodily functions, including hunger and satiety, temperature and pain regulation, fluid balance, puberty, emotions, and fertility.

Currently here is no cure for Prader-Willi syndrome. Early diagnosis, early multidisciplinary care has greatly improved the quality of life of affected children.  Administering human growth hormone (Genotropin, Humatrope, Norditropin) improves muscle mass and growth. There are currently no long-term data on the effect of GH treatment in adults, particularly concerning its effect on the behavioral problems and degree of autonomy obtained. In adults, complications linked to obesity and the issue of autonomy continue to pose important problems.*Authors: Drs G. Diene, A. Postel-Vinay, G. Pinto, M. Polak and M. Tauber (June 2007)*.

The most common symptoms of Prader-Willi syndrome are:

* Frail muscle tone in newborns
* Slow motor development
* Delayed mental development
* Little hands and feet in comparison to body
* Fast weight gain with marked obesity
* Unsatisfied appetite, food craving
* Almond-shaped eyes
* Skeletal (limb) abnormalities